المؤلفون: Molina-Ramírez, Leslie P, Burkitt-Wright, Emma Mm, Saeed, Haroon, McDermott, John H, Kyle, Claire, Wright, Ronnie, Campbell, Christopher, Bhaskar, Sanjeev S, Taylor, Algy, Dutton, Laura, Forde, Claire, Metcalfe, Kay, Smith, Audrey, Clayton-Smith, Jill, Douzgou, Sofia, Chandler, Kate, Briggs, Tracy A, Banka, Siddharth, Newman, William G, Gokhale, David, Bruce, Iain A, Black, Graeme C

المصدر: Molina-Ramírez , L P , Burkitt-Wright , E M , Saeed , H , McDermott , J H , Kyle , C , Wright , R , Campbell , C , Bhaskar , S S , Taylor , A , Dutton , L , Forde , C , Metcalfe , K , Smith , A , Clayton-Smith , J , Douzgou , S , Chandler , K , Briggs , T A , Banka , S , Newman , W G , Gokhale , D , Bruce , I A & Black , G C 2021 , ' The ....

مصطلحات موضوعية: genomics, hearing loss, precision medicine

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1111/coa.13826Test
https://research.manchester.ac.uk/en/publications/24d04414-ba64-4ae6-8c8c-f76756dc7d6eTest
https://pure.manchester.ac.uk/ws/files/207977068/coa.13826.pdfTest

المؤلفون: Molina-Ramírez, Leslie Patricia, Kyle, Claire, Ellingford, Jamie M, Wright, Ronnie, Taylor, Algy, Bhaskar, Sanjeev S, Campbell, Christopher, Jackson, Harriet, Fairclough, Adele, Rousseau, Abigail, Burghel, George J, Dutton, Laura, Banka, Siddharth, Briggs, Tracy A, Clayton-Smith, Jill, Douzgou, Sofia, Jones, Elizabeth A, Kingston, Helen M, Kerr, Bronwyn, Ealing, John, Somarathi, Suresh, Chandler, Kate E, Stuart, Helen M, Burkitt-Wright, Emma Mm, Newman, William G, Bruce, Iain A, Black, Graeme C, Gokhale, David

المصدر: Molina-Ramírez , L P , Kyle , C , Ellingford , J M , Wright , R , Taylor , A , Bhaskar , S S , Campbell , C , Jackson , H , Fairclough , A , Rousseau , A , Burghel , G J , Dutton , L , Banka , S , Briggs , T A , Clayton-Smith , J , Douzgou , S , Jones , E A , Kingston , H M , Kerr , B , Ealing , J , Somarathi , S , Chandler , K E , Stuart , H ....

مصطلحات موضوعية: early diagnosis, genetics, genomics, medical

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-107303Test
https://research.manchester.ac.uk/en/publications/b8cc7e77-7d43-4ac0-a7c2-56ab305c211fTest
https://pure.manchester.ac.uk/ws/files/194448392/jmedgenet_2020_107303.full.pdfTest

المؤلفون: Hochberg, Irit, Demain, Leigh A. M., Richer, Julie, Thompson, Kyle, Urquhart, Jill E., Rea, Alessandro, Pagarkar, Waheeda, Rodríguez Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Pujol, Aurora, Quijada Fraile, Pilar, Amberger, Albert, Deutschmann, Andrea J., Demetz, Sandra, Gillespie, Meredith, Belyantseva, Inna A., Mcmillan, Hugh J., Barzik, Melanie, Beaman, Glenda M., Motha, Reeya, Ng, Kah Ying, O’sullivan, James, Williams, Simon G., Bhaskar, Sanjeev S., Lawrence, Isabella R., Jenkinson, Emma M., Zambonin, Jessica L., Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W., Zschocke, Johannes, Munro, Kevin J., Battersby, Brendan J., Friedman, Thomas B., Taylor, Robert W., O’keefe, Raymond T., Newman, William G.

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

مصطلحات موضوعية: Malalties de l'ovari, Malalties rares, Ovary diseases, Rare diseases

وصف الملف: 10 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1016/j.ajhg.2021.10.002Test; The American Journal of Human Genetics, 2021, vol. 108, num. 11, p. 2195-2204; https://doi.org/10.1016/j.ajhg.2021.10.002Test; http://hdl.handle.net/2445/181732Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.10.002Test
http://hdl.handle.net/2445/181732Test

المؤلفون: Page, Donna J, Miossec, Matthieu J, Williams, Simon G, Monaghan, Richard M, Fotiou, Elisavet, Cordell, Heather J, Sutcliffe, Louise, Topf, Ana, Bourgey, Mathieu, Bourque, Guillaume, Eveleigh, Robert, Dunwoodie, Sally L, Winlaw, David S, Bhattacharya, Shoumo, Breckpot, Jeroen, Devriendt, Koenraad, Gewillig, Marc, Brook, David, Setchfield, Kerry, Bu’Lock, Frances A, O’Sullivan, John, Stuart, Graham, Bezzina, Connie, Mulder, Barbara JM, Postma, Alex V, Bentham, James R, Baron, Martin, Bhaskar, Sanjeev S, Black, Graeme C, Newman, William G, Hentges, Kathryn E, Lathrop, Mark, Santibanez-Koref, Mauro, Keavney, Bernard D

المصدر: Young Investigators Award

الإتاحة: https://doi.org/10.1136/heartjnl-2019-bcs.226Test

المؤلفون: Morgan, Robert D, Clamp, Andrew R, White, Daniel J, Price, Marcus, Burghel, George J, Ryder, W David J, Mahmood, Reem D, Murphy, Alexander D, Hasan, Jurjees, Mitchell, Claire L, Salih, Zena, Wheeler, Chelsey, Buckley, Emma, Truelove, Joanna, King, Georgia, Ainaoui, Yasmina, Bhaskar, Sanjeev S, Shaw, Joseph, Evans, D Gareth R, Kilerci, Bedirhan, Pearce, Simon P, Brady, Gerard, Dive, Caroline, O'Connor, James P B, Wallace, Andrew J, Rothwell, Dominic G, Edmondson, Richard J, Jayson, Gordon C

المصدر: Morgan , R D , Clamp , A R , White , D J , Price , M , Burghel , G J , Ryder , W D J , Mahmood , R D , Murphy , A D , Hasan , J , Mitchell , C L , Salih , Z , Wheeler , C , Buckley , E , Truelove , J , King , G , Ainaoui , Y , Bhaskar , S S , Shaw , J , Evans , D G R , Kilerci , B , Pearce , S P , Brady , ....

مصطلحات موضوعية: Humans, Female, Poly(ADP-ribose) Polymerase Inhibitors/adverse effects, BRCA1 Protein/genetics, BRCA2 Protein/genetics, Ovarian Neoplasms/drug therapy, Carcinoma, Ovarian Epithelial/drug therapy, Antineoplastic Agents/therapeutic use, Phthalazines/adverse effects, Cystadenocarcinoma, Serous/drug therapy, Neoplasm Recurrence, Local/drug therapy

العلاقة: https://research.manchester.ac.uk/en/publications/4fa27fbe-2aeb-44f7-a334-df8de5f6a0d0Test

الإتاحة: https://doi.org/10.1158/1078-0432.CCR-22-3282Test
https://research.manchester.ac.uk/en/publications/4fa27fbe-2aeb-44f7-a334-df8de5f6a0d0Test

المؤلفون: Page, Donna J, Miossec, Matthieu J, Williams, Simon G, Monaghan, Richard M, Fotiou, Elisavet, Cordell, Heather J, Sutcliffe, Louise, Topf, Ana, Bourgey, Mathieu, Bourque, Guillaume, Eveleigh, Robert, Dunwoodie, Sally L, Winlaw, David S, Bhattacharya, Shoumo, Breckpot, Jeroen, Devriendt, Koenraad, Gewillig, Marc, Brook, J David, Setchfield, Kerry J, Bu'Lock, Frances A, O'Sullivan, John, Stuart, Graham, Bezzina, Connie R, Mulder, Barbara J M, Postma, Alex V, Bentham, James R, Baron, Martin, Bhaskar, Sanjeev S, Black, Graeme C, Newman, William G, Hentges, Kathryn E, Lathrop, G Mark, Santibanez-Koref, Mauro, Keavney, Bernard D

المصدر: Page , D J , Miossec , M J , Williams , S G , Monaghan , R M , Fotiou , E , Cordell , H J , Sutcliffe , L , Topf , A , Bourgey , M , Bourque , G , Eveleigh , R , Dunwoodie , S L , Winlaw , D S , Bhattacharya , S , Breckpot , J , Devriendt , K , Gewillig , M , Brook , J D , Setchfield , K J , Bu'Lock , F A , O'Sullivan , J , Stuart , G , Bezzina ....

مصطلحات موضوعية: Tetralogy of Fallot, genes, genetic variation, heart diseases, whole exome sequencing

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الإتاحة: https://doi.org/10.1161/CIRCRESAHA.118.313250Test
https://research.manchester.ac.uk/en/publications/32d84d84-3f8a-4b74-b9a2-a294edb39de2Test
https://pure.manchester.ac.uk/ws/files/83937573/Keavney_Cir_Res_Manuscript.docxTest
https://www.mendeley.com/catalogue/55880b84-de92-3954-a749-ddfdd041fd66Test/

المؤلفون: Beaman, Glenda M., Galatà, Gabriella, Teik, Keng W., Urquhart, Jill E., Aishah, Ali, O'Sullivan, James, Bhaskar, Sanjeev S., Wood, Katherine A., Thomas, Huw B., O'Keefe, Raymond T., Woolf, Adrian S., Stuart, Helen M., Newman, William G.

المساهمون: Academy of Medical Sciences, Medical Research Council Canada

المصدر: Clinical Genetics ; volume 96, issue 6, page 515-520 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.13631Test

المؤلفون: Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yoann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O'Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, CORDELLI, DUCCIO MARIA, De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E. G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, Van Der Knaap, Marjo S., Livingston, John H., O'Keefe, Raymond T., Crow, Yanick J.

المساهمون: Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yoann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O'Sullivan, Jame, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E. G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, Van Der Knaap, Marjo S., Livingston, John H., O'Keefe, Raymond T., Crow, Yanick J.

مصطلحات موضوعية: Adolescent, Adult, Calcinosi, Cell Line, Cerebral Small Vessel Disease, Child, Preschool, Chromosomes, Human, Pair 17, Cohort Studie, Cyst, Exome, Female, Genetic Linkage, Genome, Infant, Leukoencephalopathie, Male, Middle Aged, RNA, Small Nucleolar, Sequence Analysis, DNA, Young Adult, Mutation, Genetics

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27571260; info:eu-repo/semantics/altIdentifier/wos/WOS:000384391600013; volume:48; issue:10; firstpage:1185; lastpage:1192; numberofpages:8; journal:NATURE GENETICS; http://hdl.handle.net/11585/635698Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84984623213; http://www.nature.com/ng/index.htmlTest

الإتاحة: https://doi.org/10.1038/ng.3661Test
http://hdl.handle.net/11585/635698Test
http://www.nature.com/ng/index.htmlTest

المؤلفون: Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yoann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O'Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E.G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, van der Knaap, Marjo S., Livingston, John H., O'Keefe, Raymond T., Crow, Yanick J.

المصدر: Jenkinson , E M , Rodero , M P , Kasher , P R , Uggenti , C , Oojageer , A , Goosey , L C , Rose , Y , Kershaw , C J , Urquhart , J E , Williams , S G , Bhaskar , S S , O'Sullivan , J , Baerlocher , G M , Haubitz , M , Aubert , G , Barañano , K W , Barnicoat , A J , Battini , R , Berger , A , Blair , E M , Brunstrom-Hernandez , J E , Buckard , ....

العلاقة: https://research.vumc.nl/en/publications/54152b10-e315-41eb-8680-02d055dcc8eeTest

الإتاحة: https://doi.org/10.1038/ng0217-317bTest
https://research.vumc.nl/en/publications/54152b10-e315-41eb-8680-02d055dcc8eeTest
http://www.scopus.com/inward/record.url?scp=85064772725&partnerID=8YFLogxKTest

المؤلفون: Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R

المصدر: Nature Genetics ; volume 49, issue 2, page 317-317 ; ISSN 1061-4036 1546-1718

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1038/ng0217-317bTest
http://www.nature.com/articles/ng0217-317b.pdfTest
http://www.nature.com/articles/ng0217-317bTest